About Me

Dr. Shubha Phadke

Dr. Shubha Rajendra Phadke

A distinguished medical geneticist with more than three decades of pioneering contributions in medical genetics, dysmorphology and genetic hematology. I was the first DM in Medical Genetics in India and formerly served as Professor & Head, Department of Medical Genetics at Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow.

  • 📌 Founder of Society for Indian Academy of Medical Genetics (SIAMG)
  • 📌 Trained 46+ DM students, now leading genetics departments across India
  • 📌 Organized the annual ICMR Course in Medical Genetics, since 2000 training 600+ clinicians
  • 📌 Discovered new malformation syndromes and causative genes for rare disorders
  • 📌 Authored 300+ publications and the textbook Genetics for Clinicians
Honors & Recognition

🏅 I.C. Verma Award for Excellence in Research (2016)

🎤 Invited speaker at national & international conferences including TEDx

📖 Editor of Genetics Clinics & on editorial boards of leading international journals

Current Role

Professor, Medical Genetics, Bharati Vidyapeeth Medical College, Pune Consultant, Medical Genetics,  Jupiter Hospital, Pune
Continuing her commitment to patient care, research and medical education.

Featured Article: Franklin by Genoox – Community Spotlight on Prof. Shubha Phadke

Awards & Recognitions

Hargobind Foundation Fellowship
(1994)
International Scholarship

Clinical Genetics Society, UK

(2009)
Dr. I. C. Verma Outstanding Researcher Award
(2016)

Global Recognition & Invited Lectures

Recipient of the International Scholarship from the Clinical Genetics Society, UK (2009). Training in University of Washington, Seattle, 1994. Invited and attended, “The  Genomics Education and Training Summits” organized by NHS, UK and WHO, held on 27th & 28th November, 2023 at Conference Centre on the Welcome Genome Campus, Hinxton, Cambridge, UK and 20th and 21st Feb 2025 at Divani Palace, Athens, Greece.

Invited Lectures at International Conferences:
  • “Malformation Syndromes: Our experience” – Spring Conference of Clinical Genetics Society, London, UK (March 2009)
  • “Genetics of Short Stature” – Fourth International Conference on Birth Defects, New Delhi (Oct 2009)
  • “Genetic Screening” – Fourth International Conference on Birth Defects, New Delhi (Oct 2009)
  • “Clinical Genetics: Indian Scenario” – ICHG & American Society of Human Genetics, Montreal, Canada (Oct 2011)
  • “Newborn Screening in India: Pilot Initiatives” – Asia Pacific Regional Meeting of International Society of Newborn Screening, New Delhi (Sept 2013)
  • “Genomic Techniques and Consanguinity in Rare Disorders” – MEDLAB, Dubai, UAE (Jan 2016)

Books

Genetics for Clinicians

A comprehensive book authored by Dr. Shubha Phadke, freely available for students, doctors and patients.

Why I like to be a Medical Geneticist

A personal essay reflecting Dr. Phadke’s journey, passion and vision in the field of medical genetics.

From Decoding DNA to Decoding Life

Phadke SR, et al. Life lessons from a Senior Medical Geneticist (pg. 54)

Research Publications

Important Recent Publications

  • Phadke SR. Navigating Genetic Testing for India. Indian J Pediatr. 2025 Oct 1. doi: 10.1007/s12098-025-05722-4. Epub ahead of print. PMID: 41032179.
  • Shambhavi A, Moirangthem A, Mishra P, Phadke SR. Understanding and issues related to next-generation sequencing among educated laypersons in India. J Genet Couns. 2025 Apr;34(2):e2008. doi: 10.1002/jgc4.2008. PMID: 40110627.
  • Adarsha N, Shambhavi A, Sait H, Moirangthem A, Saxena D, Phadke SR. Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families with Genotype and Phenotype Characterization Highlighting the Treatable Causes. Clin Genet. 2025 Apr 30. doi: 10.1111/cge.14762. Epub ahead of print. PMID: 40302693.
  • Sait H, Adarsha N, Moirangthem A, Saxena D, Sharma L, Dabadgao P, Gupta A, Phadke SR. Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers. Clin Genet. 2025 Jul 12. doi: 10.1111/cge.70003. Epub ahead of print. PMID: 40650436
  • Manisha R, Phadke SR. Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease. Indian J Pediatr. 2025 Jun;92(6):585-591. doi: 10.1007/s12098-023-04986-y. Epub 2024 Feb 5. PMID: 38315376.

OMIM Entries

Contributed to identification of causative genes for 7 monogenic disorders

  • OMIM 607539 (Complex campto-syn-polydactyly caused by BHLHA9)
  • OMIM 617612 (Joubert syndrome 30 caused by ARMC9)
  • OMIM 610188 (Joubert syndrome 9 caused by CEP290)
  • OMIM 615866 (Coffin Siris syndrome 9 caused by SOX11)
  • OMIM 271510 (Sponastrime type of spondyloepimetaphyseal dysplasia caused by TONSL)
  • OMIM 617927 (Orofaciodigital syndrome 18 caused by IFT57)
  • OMIM 617983 (AR Primary microcephaly 21 caused by NCAPD2)